My darling disease

Today is rare disease day and I'm planning to start a series where I take a disease every month to explain about it in a more simpler way. Ofcourse, I had to start with the disease that took over my life, Friedreich’s Ataxia (FA). From dragging me into depression to shaping me into a stronger woman, FA and I have come a long way. But, what is it exactly? To begin with:

Biology

FA is a genetic disorder which means the information to make a protein (gene) is disrupted. To develop FA, one needs 2 defective copies of gene (One from each parent). This defective gene forms an improperly functioning protein, Frataxin. Frataxin plays a role in giving energy to our cells and a damage to this protein affects the neurons which carry signals to the brain, the spine and the heart that are in constant need of energy.

Affect

• Scoliosis- Nerve damage in spine

• Difficulty walking due to lack of coordination

• Slurred Speech-Weak throat muscles

• Involuntary eye movement-Nerve damage in eyes

• Heart diseases- lack of energy to the heart

Overall, there is constant nerve degeneration happening throughout the life resulting in the disease to be progressive. One who is diagnosed will initially walk but, eventually will become wheelchair bound for the rest of their life. Also, there can be chances of becoming bedridden in the later stages.

KEEP IN MIND THAT A DIAGNOSIS DOES NOT DEFINE A CHILD!

THANK YOU.

STAY TUNED FOR THE NEXT DISEASE, NEXT MONTH